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Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.
Am J Med Genet A. 2023 Jul;191(7):1929-1934. doi: 10.1002/ajmg.a.63200. Epub 2023 Apr 5.
Am J Med Genet A. 2023.
PMID: 37017437
Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A.
Grudzinska Pechhacker MK, et al. Among authors: pekkola pacheco n.
Ophthalmic Genet. 2024 Feb;45(1):95-102. doi: 10.1080/13816810.2023.2215332. Epub 2023 May 29.
Ophthalmic Genet. 2024.
PMID: 37246745
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